Human Health Exposure Analysis Resource

Last uploaded: July 19, 2024
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Preferred Name

Antley-Bixler syndrome with disordered steroidogenesis
Synonyms

trapezoidocephaly-synostosis syndrome
Definitions

An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene. OMIM mapping confirmed by DO. [SN].
ID

http://purl.obolibrary.org/obo/DOID_0050462
comment

OMIM mapping confirmed by DO. [SN].
alternative label

trapezoidocephaly-synostosis syndrome
database_cross_reference

SNOMEDCT_US_2021_09_01:62964007

MIM:201750
definition

An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.

OMIM mapping confirmed by DO. [SN].
disease has basis in

http://purl.obolibrary.org/obo/SYMP_0000462
has close match

MESH:D054882
has exact match

MESH:D054882
has exact synonym

trapezoidocephaly-synostosis syndrome
has material basis in

http://purl.obolibrary.org/obo/GENO_0000148
has_obo_namespace

disease_ontology
id

DOID:0050462
label

Antley-Bixler syndrome with disordered steroidogenesis
notation

DOID:0050462
note

An Antley-Bixler syndrome that is characterized at birth or prenatally by malformations and deformities affecting the majority of the skeleton and other areas of the body with autosomal recessive inheritance of the FGFR2 gene.

OMIM mapping confirmed by DO. [SN].
preferred label

Antley-Bixler syndrome with disordered steroidogenesis
prefLabel

Antley-Bixler syndrome with disordered steroidogenesis
subClassOf

http://purl.obolibrary.org/obo/DOID_0081289

http://purl.obolibrary.org/obo/DOID_0050737

http://purl.obolibrary.org/obo/DOID_225
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